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Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.

Abstract

Multiple carboxylase deficiency (MCD) is a rare inherited metabolic disease of biotin dependency due to deficiency of holocarboxylase synthetase (HCS) or biotinidase deficiency. A 30-month-old female patient who presented with the initial features of diabetic ketoacidosis (severe metabolic acidosis, ketosis, and hyperglycemia), lactic acidemia, moderate hyperammonemia, and generalized organic aciduria is described. Associated symptoms and signs included erythematous skin rashes, alopecia and developmental delay. The patient responded dramatically to treatment with biotin (10 mg/day) showing normalization of clinical symptoms and most biochemical abnormalities. Based on the urine organic profile by gas chromatography/ mass spectrometry (GC/MS), the diagnosis of MCD was made. A plasma tandem mass study confirmed this diagnosis. The biotinase activity in serum was normal, indicating that this was a rare case of late-onset HCS deficiency.

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  • Authors+Show Affiliations

    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children's Hospital, Taipei, Taiwan 333, ROC. houjw741@cgmh.org.tw

    Source

    Chang Gung medical journal 27:2 2004 Feb pg 129-33

    MeSH

    Biotin
    Child, Preschool
    Diabetic Ketoacidosis
    Diagnosis, Differential
    Female
    Humans
    Multiple Carboxylase Deficiency

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    15095958

    Citation

    Hou, Jia-Woei. "Biotin Responsive Multiple Carboxylase Deficiency Presenting as Diabetic Ketoacidosis." Chang Gung Medical Journal, vol. 27, no. 2, 2004, pp. 129-33.
    Hou JW. Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis. Chang Gung Med J. 2004;27(2):129-33.
    Hou, J. W. (2004). Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis. Chang Gung Medical Journal, 27(2), pp. 129-33.
    Hou JW. Biotin Responsive Multiple Carboxylase Deficiency Presenting as Diabetic Ketoacidosis. Chang Gung Med J. 2004;27(2):129-33. PubMed PMID: 15095958.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis. A1 - Hou,Jia-Woei, PY - 2004/4/21/pubmed PY - 2004/5/15/medline PY - 2004/4/21/entrez SP - 129 EP - 33 JF - Chang Gung medical journal JO - Chang Gung Med J VL - 27 IS - 2 N2 - Multiple carboxylase deficiency (MCD) is a rare inherited metabolic disease of biotin dependency due to deficiency of holocarboxylase synthetase (HCS) or biotinidase deficiency. A 30-month-old female patient who presented with the initial features of diabetic ketoacidosis (severe metabolic acidosis, ketosis, and hyperglycemia), lactic acidemia, moderate hyperammonemia, and generalized organic aciduria is described. Associated symptoms and signs included erythematous skin rashes, alopecia and developmental delay. The patient responded dramatically to treatment with biotin (10 mg/day) showing normalization of clinical symptoms and most biochemical abnormalities. Based on the urine organic profile by gas chromatography/ mass spectrometry (GC/MS), the diagnosis of MCD was made. A plasma tandem mass study confirmed this diagnosis. The biotinase activity in serum was normal, indicating that this was a rare case of late-onset HCS deficiency. SN - 2072-0939 UR - https://www.unboundmedicine.com/medline/citation/15095958/Biotin_responsive_multiple_carboxylase_deficiency_presenting_as_diabetic_ketoacidosis_ L2 - http://cgmj.cgu.edu.tw/2702/270207.pdf DB - PRIME DP - Unbound Medicine ER -